solute carrier family 45, member 2 (SLC45A2) - coding DNA reference sequence

(used for variant description)

(last modified July 24, 2014)

This file was created to facilitate the description of sequence variants on transcript NM_016180.3 in the SLC45A2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_011691.1, covering SLC45A2 transcript NM_016180.3.

Please note that introns are available by clicking on the exon numbers above the sequence.

 (upstream sequence)
                               .         .         .                g.5032
                             gccaggctccacgtcaaatccagtttgaaaca       c.-61

 .         .         .         .         .         .                g.5092
 cagaccctaggaccacgcaggaggtggtgggctcgcaggaaggttcctctcccagtggcc       c.-1

          .         .         .         .         .         .       g.5152
 ATGGGTAGCAACAGTGGGCAGGCTGGCCGCCACATCTATAAATCCCTAGCTGATGATGGC       c.60
 M  G  S  N  S  G  Q  A  G  R  H  I  Y  K  S  L  A  D  D  G         p.20

          .         .         .         .         .         .       g.5212
 CCCTTTGACTCTGTGGAGCCGCCTAAAAGACCCACCAGCAGACTCATCATGCACAGCATG       c.120
 P  F  D  S  V  E  P  P  K  R  P  T  S  R  L  I  M  H  S  M         p.40

          .         .         .         .         .         .       g.5272
 GCCATGTTCGGAAGAGAGTTCTGCTACGCGGTGGAGGCAGCGTATGTGACCCCAGTCCTG       c.180
 A  M  F  G  R  E  F  C  Y  A  V  E  A  A  Y  V  T  P  V  L         p.60

          .         .         .         .         .         .       g.5332
 CTCAGCGTAGGTCTGCCCAGCAGCCTGTACAGCATTGTGTGGTTCCTCAGCCCCATCCTG       c.240
 L  S  V  G  L  P  S  S  L  Y  S  I  V  W  F  L  S  P  I  L         p.80

          .         .         .         .         .         .       g.5392
 GGATTCCTGCTGCAGCCCGTGGTCGGATCGGCCAGCGACCACTGCCGGTCCAGGTGGGGC       c.300
 G  F  L  L  Q  P  V  V  G  S  A  S  D  H  C  R  S  R  W  G         p.100

          .         .         .         .         .         .       g.5452
 CGCCGGAGACCCTACATCCTCACCCTGGGAGTCATGATGCTCGTGGGCATGGCTCTGTAC       c.360
 R  R  R  P  Y  I  L  T  L  G  V  M  M  L  V  G  M  A  L  Y         p.120

          .         .      | 02  .         .         .         .    g.7298
 CTCAATGGGGCTACTGTTGTAGCAG | CTTTGATTGCTAACCCAAGGAGGAAGCTGGTTTGG    c.420
 L  N  G  A  T  V  V  A  A |   L  I  A  N  P  R  R  K  L  V  W      p.140

          .         .         .         .         .         .       g.7358
 GCCATAAGTGTCACCATGATAGGTGTCGTTCTCTTTGATTTTGCTGCCGACTTCATTGAT       c.480
 A  I  S  V  T  M  I  G  V  V  L  F  D  F  A  A  D  F  I  D         p.160

          .         .         .         .         .         .       g.7418
 GGGCCCATCAAAGCCTACTTATTTGATGTCTGCTCCCATCAGGACAAGGAGAAGGGCCTC       c.540
 G  P  I  K  A  Y  L  F  D  V  C  S  H  Q  D  K  E  K  G  L         p.180

          .         .   | 03     .         .         .         .    g.25697
 CACTACCATGCCCTCTTCACAG | GTTTTGGAGGTGCCCTGGGTTACCTTTTGGGTGCTATA    c.600
 H  Y  H  A  L  F  T  G |   F  G  G  A  L  G  Y  L  L  G  A  I      p.200

          .         .         .         .         .         .       g.25757
 GACTGGGCCCATCTGGAGCTGGGAAGACTGTTGGGTACAGAATTCCAGGTCATGTTCTTC       c.660
 D  W  A  H  L  E  L  G  R  L  L  G  T  E  F  Q  V  M  F  F         p.220

          .         .         .         .         .         .       g.25817
 TTCTCTGCATTGGTGCTCACTTTGTGTTTTACTGTTCATCTGTGCAGTATCTCTGAAGCC       c.720
 F  S  A  L  V  L  T  L  C  F  T  V  H  L  C  S  I  S  E  A         p.240

          .         .         .         .         .         .       g.25877
 CCACTTACAGAGGTTGCAAAGGGCATTCCCCCACAGCAAACCCCTCAGGACCCTCCATTG       c.780
 P  L  T  E  V  A  K  G  I  P  P  Q  Q  T  P  Q  D  P  P  L         p.260

          .         .         .         .         .         .       g.25937
 TCATCAGATGGAATGTACGAGTATGGTTCTATCGAGAAAGTTAAAAATGGTTACGTAAAT       c.840
 S  S  D  G  M  Y  E  Y  G  S  I  E  K  V  K  N  G  Y  V  N         p.280

          .         .         .         .         | 04         .    g.35183
 CCAGAGCTGGCAATGCAGGGAGCAAAAAACAAAAATCATGCTGAACAG | ACTCGCAGGGCA    c.900
 P  E  L  A  M  Q  G  A  K  N  K  N  H  A  E  Q   | T  R  R  A      p.300

          .         .         .         .         .         .       g.35243
 ATGACATTAAAGTCACTGCTGAGAGCACTGGTGAACATGCCTCCTCACTACCGCTACCTT       c.960
 M  T  L  K  S  L  L  R  A  L  V  N  M  P  P  H  Y  R  Y  L         p.320

          .         .         .         .         .         .       g.35303
 TGCATCAGCCACCTCATTGGATGGACGGCCTTCCTGTCCAACATGCTGTTCTTCACAGAT       c.1020
 C  I  S  H  L  I  G  W  T  A  F  L  S  N  M  L  F  F  T  D         p.340

          .   | 05     .         .         .         .         .    g.38046
 TTCATGGGCCAG | ATTGTGTACCGCGGGGATCCCTATAGTGCACACAACTCCACAGAGTTT    c.1080
 F  M  G  Q   | I  V  Y  R  G  D  P  Y  S  A  H  N  S  T  E  F      p.360

          .         .         .         .         .         .       g.38106
 CTCATCTACGAAAGAGGAGTCGAGGTTGGATGTTGGGGCTTCTGCATCAACTCCGTGTTT       c.1140
 L  I  Y  E  R  G  V  E  V  G  C  W  G  F  C  I  N  S  V  F         p.380

          .       | 06 .         .         .         .         .    g.42345
 TCCTCACTTTATTCTT | ACTTTCAGAAAGTTTTGGTATCCTACATTGGATTAAAGGGTCTT    c.1200
 S  S  L  Y  S  Y |   F  Q  K  V  L  V  S  Y  I  G  L  K  G  L      p.400

          .         .         .         .         .         .       g.42405
 TACTTCACGGGATATTTGCTGTTTGGCCTGGGGACGGGATTTATTGGGCTCTTCCCGAAT       c.1260
 Y  F  T  G  Y  L  L  F  G  L  G  T  G  F  I  G  L  F  P  N         p.420

          .         .         .         .         .         .       g.42465
 GTCTACTCCACCCTGGTCCTGTGCAGCCTGTTTGGTGTAATGTCCAGCACCCTGTACACT       c.1320
 V  Y  S  T  L  V  L  C  S  L  F  G  V  M  S  S  T  L  Y  T         p.440

          .         .         .         .         | 07         .    g.44815
 GTGCCCTTTAACCTCATTACTGAGTACCACCGCGAGGAAGAAAAGGAG | AGGCAGCAGGCC    c.1380
 V  P  F  N  L  I  T  E  Y  H  R  E  E  E  K  E   | R  Q  Q  A      p.460

          .         .         .         .         .         .       g.44875
 CCAGGAGGGGACCCAGACAACAGCGTGAGAGGGAAGGGCATGGACTGCGCCACCCTCACA       c.1440
 P  G  G  D  P  D  N  S  V  R  G  K  G  M  D  C  A  T  L  T         p.480

          .         .         .         .         .         .       g.44935
 TGCATGGTGCAGCTGGCTCAGATCCTGGTCGGAGGTGGCCTGGGCTTTCTGGTCAACACA       c.1500
 C  M  V  Q  L  A  Q  I  L  V  G  G  G  L  G  F  L  V  N  T         p.500

          .         .         .         .         .         .       g.44995
 GCCGGGACCGTTGTCGTCGTGGTGATCACAGCGTCTGCGGTGGCACTGATAGGCTGTTGC       c.1560
 A  G  T  V  V  V  V  V  I  T  A  S  A  V  A  L  I  G  C  C         p.520

          .         .         .                                     g.45028
 TTTGTCGCTCTCTTTGTTAGATATGTGGATTAG                                  c.1593
 F  V  A  L  F  V  R  Y  V  D  X                                    p.530

          .         .         .                                     g.45060
 gtcaataaagagacaatgaccctaacctcaga                                   c.*32

 (downstream sequence)

Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10^th nucleotide is indicated by a "." above the sequence. The Solute carrier family 45, member 2 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10^th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.